Incidental Mutation 'IGL02559:Hist1h2bj'
ID298611
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hist1h2bj
Ensembl Gene ENSMUSG00000069300
Gene Namehistone cluster 1, H2bj
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.463) question?
Stock #IGL02559
Quality Score
Status
Chromosome13
Chromosomal Location22043214-22043676 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 22043363 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 45 (V45E)
Ref Sequence ENSEMBL: ENSMUSP00000106082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091741] [ENSMUST00000102977] [ENSMUST00000110452]
Predicted Effect probably benign
Transcript: ENSMUST00000091741
SMART Domains Protein: ENSMUSP00000089335
Gene: ENSMUSG00000069301

DomainStartEndE-ValueType
H2A 3 123 8.07e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102977
SMART Domains Protein: ENSMUSP00000100042
Gene: ENSMUSG00000060639

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000110452
AA Change: V45E

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106082
Gene: ENSMUSG00000069300
AA Change: V45E

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
H2B 28 124 4.64e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198508
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,687,070 Q1004* probably null Het
Bahcc1 A G 11: 120,285,172 D1914G probably damaging Het
Bcl11b A T 12: 107,915,394 probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col24a1 A T 3: 145,314,173 I102F probably benign Het
Col7a1 C T 9: 108,973,216 R2063C unknown Het
Ddo T A 10: 40,647,521 L169Q probably damaging Het
Defb4 G T 8: 19,201,297 C60F probably damaging Het
Dock9 A T 14: 121,625,147 probably benign Het
Dysf A T 6: 84,067,446 probably benign Het
Fasn G A 11: 120,809,066 A2253V possibly damaging Het
Fbxw26 T C 9: 109,722,164 D355G probably benign Het
Gak C T 5: 108,584,232 E797K probably null Het
Gm10654 T C 8: 70,932,130 noncoding transcript Het
Gnas T C 2: 174,341,936 probably benign Het
Hdac3 A G 18: 37,954,891 F8S probably damaging Het
Hrh4 T C 18: 13,007,244 probably null Het
Klhl1 A G 14: 96,151,960 V586A possibly damaging Het
Lct T C 1: 128,294,266 N1512S probably damaging Het
Mmp28 G T 11: 83,447,740 N128K probably benign Het
Mndal T C 1: 173,872,920 T162A probably benign Het
Myh3 A G 11: 67,101,095 E1822G possibly damaging Het
Mylpf A G 7: 127,214,143 Y133C probably damaging Het
Nup210l G A 3: 90,159,953 A767T probably benign Het
Olfr1404 T C 1: 173,216,521 V290A probably damaging Het
Olfr221 A G 14: 52,036,007 Y35H probably damaging Het
Olfr666 T A 7: 104,892,954 R225W probably benign Het
Paics A G 5: 76,964,604 I312V possibly damaging Het
Pkdrej G T 15: 85,817,848 Q1296K probably benign Het
Ppil2 T C 16: 17,109,651 K26E possibly damaging Het
Rufy1 A G 11: 50,420,483 F170L probably damaging Het
Shcbp1 T A 8: 4,749,305 E93V probably damaging Het
Slamf1 T A 1: 171,767,258 I11K possibly damaging Het
Slc5a5 C T 8: 70,890,271 G215D probably damaging Het
Slco1a1 A T 6: 141,921,788 V473D probably benign Het
Slit1 A G 19: 41,721,085 V123A probably benign Het
Srgap2 A C 1: 131,524,936 probably null Het
Stk32c T C 7: 139,120,690 M208V probably benign Het
Syt15 T C 14: 34,221,803 V103A probably benign Het
Tacc2 T A 7: 130,759,267 L456Q probably damaging Het
Tanc1 A G 2: 59,724,654 probably benign Het
Tepsin G T 11: 120,096,905 D62E probably benign Het
Thap3 T C 4: 151,983,687 D106G probably benign Het
Ttn T C 2: 76,786,217 D14818G probably damaging Het
Txndc2 T C 17: 65,639,590 N39S possibly damaging Het
Ubxn11 A G 4: 134,124,943 E200G probably damaging Het
Vmn2r11 T G 5: 109,052,180 Q469P probably damaging Het
Yipf2 T C 9: 21,592,186 T22A probably damaging Het
Other mutations in Hist1h2bj
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02862:Hist1h2bj APN 13 22043345 missense possibly damaging 0.81
R4716:Hist1h2bj UTSW 13 22043363 missense possibly damaging 0.87
R4850:Hist1h2bj UTSW 13 22043251 unclassified probably benign
R4851:Hist1h2bj UTSW 13 22043251 unclassified probably benign
V8831:Hist1h2bj UTSW 13 22043281 unclassified probably benign
Posted On2015-04-16